18-45727373-C-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001128588.4(SLC14A1):c.102C>A(p.Gly34Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.475 in 1,550,130 control chromosomes in the GnomAD database, including 177,838 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001128588.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.415 AC: 63095AN: 152014Hom.: 14107 Cov.: 33
GnomAD3 exomes AF: 0.472 AC: 72517AN: 153612Hom.: 17494 AF XY: 0.470 AC XY: 38287AN XY: 81508
GnomAD4 exome AF: 0.481 AC: 672907AN: 1397998Hom.: 163733 Cov.: 46 AF XY: 0.480 AC XY: 330635AN XY: 689316
GnomAD4 genome AF: 0.415 AC: 63104AN: 152132Hom.: 14105 Cov.: 33 AF XY: 0.414 AC XY: 30756AN XY: 74354
ClinVar
Submissions by phenotype
SLC14A1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at